Sickle Cell Disease
Overview
Sickle cell disease (SCD) is a group of inherited blood disorders that affect hemoglobin, the protein in red blood cells responsible for carrying oxygen.
In SCD, the hemoglobin is abnormal, causing red blood cells to become stiff and shaped like a crescent or sickle. These sickle-shaped cells can block blood flow in small blood vessels, leading to pain and various health complications.
Types of sickle cell disease
There are several types of sickle cell disease, which are determined by the specific mutations in the hemoglobin genes inherited from parents:
Sickle cell anemia
This is the most common and severe form of SCD. It occurs when a person inherits two sickle cell genes (one from each parent). This leads to a significant shortage of healthy red blood cells and severe symptoms.
Sickle cell trait
Individuals with one sickle cell gene and one normal gene have sickle cell trait. They usually do not experience symptoms but can pass the gene to their children.
Other variants
There are other forms where a person has one sickle cell gene and one gene for another abnormal hemoglobin.
Common signs and symptoms
Sickle cell usually present in early childhood, often within the first year of life, usually around five months of age.
- Anemia symptoms like fatigability and palor.
- Yellowing of the skin and eyes due to hemolysis.
- Pain crises in the chest, abdomen, joints, or bones due to blocked blood flow.
- Swollen hands and feet
- Frequent infections
- Delayed growth
- Vision problems
- Leg ulcers
- Painful prolonged erections
Diagnostic tests and procedures
Complete blood count (CBC) to assess hemoglobin levels and the characteristics of red blood cells.
Hemoglobin electrophoresis to identify the specific type of hemoglobin in the blood.
Genetic testing to confirm the diagnosis and determine if family members are carriers of the condition.
Newborn screening to test newborns for sickle cell disease shortly after birth.
Treatment options
Supportive care
Pain management during crises.
Regular vaccinations to prevent infections.
Dietary advice to maintain nutrition.
Regular blood transfusions can help decrease the concentration of red blood cells that sickle.
Hydroxyurea: This medication can be given to decrease the frequency of pain crises.
Bone marrow transplant (BMT) to replace defective bone marrow with healthy stem cells from a compatible donor.
Folic acid supplements.
Gene therapy is a promising treatment option for sickle cell disease.
The Journey of Healing Starts Here
If you or your loved one is experiencing symptoms of Sickle, our expert hematology team is here to help. We provide comprehensive diagnostic services, individualized treatment plans, and ongoing support to ensure the best outcomes.
Prognosis
Patients with sickle cell disease face ongoing health challenges but can lead fulfilling lives with appropriate medical care.
At our center, we specialize in providing comprehensive care for patients with sickle cell disease by developing personalized treatment plans tailored to each patient’s needs. We are dedicated to improving the quality of life for those patients through expert care, education, and support.